H. Bausell

发表

Starting the conversation on gene therapy for phenylketonuria: Current perspectives of patients, caregivers, and advocates

L. Cowsert, D. Regier, Agata Bąk, 2022, Molecular genetics and metabolism reports.

Sapropterin therapy increases stability of blood phenylalanine levels in patients with BH4-responsive phenylketonuria (PKU).

B. Burton, H. LaDuca, R. Katz, 2010, Molecular genetics and metabolism.

Strategies for Successful Long-Term Engagement of Adults With Phenylalanine Hydroxylase Deficiency Returning to the Clinic:

Janet A. Thomas, J. Breck, V. Birardi, 2017 .

Recommendations for the use of sapropterin in phenylketonuria.

S. Cederbaum, S. Prasad, J. Gillis, 2012, Molecular genetics and metabolism.

Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics

H. Andersson, Janet A. Thomas, D. Adams, 2021, Molecular genetics and metabolism reports.

Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria

J. Vockley, B. Burton, N. Longo, 2018, Genetics in Medicine.

Practical Aspects of Recruitment and Retention in Clinical Trials of Rare Genetic Diseases: The Phenylketonuria (PKU) Experience

Stephanie J. DeWard, Ashley Wilson, Heather Bausell, 2014, Journal of Genetic Counseling.

Nutrition management of PKU with pegvaliase therapy: update of the web-based PKU nutrition management guideline recommendations

A. Kenneson, Rani H. Singh, F. Rohr, 2023, Orphanet Journal of Rare Diseases.

Tetrahydrobiopterin therapy for phenylketonuria in infants and young children.

B. Burton, J. Malone, D. Grange, 2011, The Journal of pediatrics.

Development of a practical dietitian road map for the nutritional management of phenylketonuria (PKU) patients on pegvaliase

A. Macdonald, F. Rohr, J. Rocha, 2021, Molecular genetics and metabolism reports.

Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria

A. Muntau, H. Bausell, Júlio César Rocha, 2023, Nutrients.